All variants in the CXorf58 gene

Information The variants shown are described using the NM_152761.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 2 c.21A>T r.(?) p.(=) - VUS g.23928440A>T g.23910323A>T V7V - CXorf58_000013 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. 2 c.62A>G r.(?) p.(Gln21Arg) - VUS g.23928481A>G g.23910364A>G Q21R - CXorf58_000014 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
-?/. - c.62A>G r.(?) p.(Gln21Arg) - likely benign g.23928481A>G - CXorf58(NM_001169574.1):c.62A>G (p.(Gln21Arg)) - CXorf58_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.70C>T r.(?) p.(Arg24Cys) - VUS g.23928489C>T g.23910372C>T - - CXorf58_000005 - - - - Germline - - - - - Yu Sun
?/. - c.70C>T r.(?) p.(Arg24Cys) - VUS g.23928489C>T g.23910372C>T - - CXorf58_000005 - - - - Germline - - - - - Yu Sun
?/. 2 c.70T>C r.(?) p.(Cys24Arg) - VUS g.23928489T>C - 70C>T;R24C - CXorf58_000015 recurrent, found 50 times Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 50/208 cases - 0 - Lucy Raymond
-?/. - c.85G>A r.(?) p.(Ala29Thr) - likely benign g.23928504G>A g.23910387G>A CXorf58(NM_001169574.1):c.85G>A (p.(Ala29Thr)) - CXorf58_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.311+141G>A r.(=) p.(=) - VUS g.23934052G>A g.23915935G>A - - CXorf58_000008 - - - - Germline - - - - - Yu Sun
?/. - c.312-132A>G r.(=) p.(=) - VUS g.23934202A>G g.23916085A>G - - CXorf58_000003 - - - - Germline - - - - - Yu Sun
?/. - c.312-132A>G r.(=) p.(=) - VUS g.23934202A>G g.23916085A>G - - CXorf58_000003 - - - - Germline - - - - - Yu Sun
-?/. - c.403G>A r.(?) p.(Val135Ile) - likely benign g.23934425G>A g.23916308G>A CXorf58(NM_152761.2):c.403G>A (p.V135I) - CXorf58_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.555+124G>T r.(=) p.(=) - VUS g.23945611G>T g.23927494G>T - - CXorf58_000001 - - - - Germline - - - - - Yu Sun
?/. - c.555+124G>T r.(=) p.(=) - VUS g.23945611G>T g.23927494G>T - - CXorf58_000001 - - - - Germline - - - - - Yu Sun
?/. - c.556-8C>G r.(=) p.(=) - VUS g.23953305C>G g.23935188C>G CXorf58(NM_001169574.1):c.556-8C>G (p.(=)) - CXorf58_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.556-2A>C r.spl? p.? - VUS g.23953311A>C g.23935194A>C CXorf58(NM_152761.2):c.556-2A>C - CXorf58_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.571G>A r.(?) p.(Asp191Asn) - VUS g.23953328G>A g.23935211G>A CXorf58(NM_001169574.1):c.571G>A (p.(Asp191Asn)) - CXorf58_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.767G>A r.(?) p.(Arg256Gln) - VUS g.23953524G>A g.23935407G>A CXorf58(NM_001169574.1):c.767G>A (p.(Arg256Gln)) - CXorf58_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.817C>T r.(?) p.(Arg273Trp) - VUS g.23956695C>T g.23938578C>T CXorf58(NM_152761.2):c.817C>T (p.R273W) - CXorf58_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.819G>T r.(?) p.(Arg273=) - likely benign g.23956697G>T g.23938580G>T CXorf58(NM_152761.2):c.819G>T (p.R273=) - CXorf58_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.950C>T r.(?) p.(Thr317Met) - VUS g.23957371C>T g.23939254C>T CXorf58(NM_001169574.1):c.944C>T (p.(Thr315Met)) - CXorf58_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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